A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15730616



Internal ID4631984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:69334109..69338971hg38UCSC Ensembl
Innerchr17:69334143..69338938hg38UCSC Ensembl
Outerchr17:69334076..69339005hg38UCSC Ensembl
chr17:67330250..67335112hg19UCSC Ensembl
Innerchr17:67330284..67335079hg19UCSC Ensembl
Outerchr17:67330217..67335146hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg384863
hg194863
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641129
Supporting Variants
SamplesHG04162
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15730616
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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